Canonical Allele Identifier: CA466672598

Gene: ELP1

Linked Data

• MyVariant Identifiers: chr9:g.111641827T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879547T>G , CM000671.2:g.108879547T>G	GRCh38
NC_000009.11:g.111641827T>G , CM000671.1:g.111641827T>G	GRCh37
NC_000009.10:g.110681648T>G	NCBI36
NG_008788.1:g.59782A>C , LRG_251:g.59782A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.3471A>C MANE Select	ENSP00000363779.5:p.Val1157=
ENST00000495759.6:c.*2081A>C	ENSP00000433514.2:n.*2081A>C
ENST00000674535.1:c.3471A>C	ENSP00000502142.1:p.Val1157=
ENST00000674704.1:n.6556A>C
ENST00000674740.1:n.354A>C
ENST00000674836.1:n.4084A>C
ENST00000674890.1:c.*706A>C	ENSP00000501870.1:n.*706A>C
ENST00000674938.1:c.3129A>C	ENSP00000502427.1:p.Val1043=
ENST00000674948.1:c.3129A>C	ENSP00000501602.1:p.Val1043=
ENST00000675052.1:c.3471A>C	ENSP00000502664.1:p.Val1157=
ENST00000675062.1:n.517A>C
ENST00000675078.1:c.3471A>C	ENSP00000501549.1:p.Val1157=
ENST00000675215.1:c.*2695A>C	ENSP00000502558.1:n.*2695A>C
ENST00000675233.1:n.5298A>C
ENST00000675321.1:c.3460+505A>C	ENSP00000502751.1:n.3460+505A>C
ENST00000675325.1:n.5428A>C
ENST00000675335.1:c.3502A>C	ENSP00000502182.1:n.3502A>C
ENST00000675400.1:n.5323A>C
ENST00000675406.1:c.3471A>C	ENSP00000501893.1:p.Val1157=
ENST00000675458.1:c.3564A>C	ENSP00000501754.1:n.3564A>C
ENST00000675507.1:n.5267A>C
ENST00000675535.1:c.*1098A>C	ENSP00000501667.1:n.*1098A>C
ENST00000675566.1:n.5329A>C
ENST00000675580.1:n.624A>C
ENST00000675602.1:n.6519A>C
ENST00000675647.1:n.4635A>C
ENST00000675711.1:c.3588A>C	ENSP00000502485.1:n.3588A>C
ENST00000675727.1:c.3471A>C	ENSP00000501722.1:p.Val1157=
ENST00000675748.1:n.5105A>C
ENST00000675765.1:c.*854A>C	ENSP00000502640.1:n.*854A>C
ENST00000675825.1:c.3513A>C	ENSP00000502632.1:p.Val1171=
ENST00000675877.1:n.5315A>C
ENST00000675893.1:c.*4540A>C	ENSP00000502001.1:n.*4540A>C
ENST00000675943.1:n.7086A>C
ENST00000675979.1:c.*2714A>C	ENSP00000502208.1:n.*2714A>C
ENST00000676044.1:c.*1131A>C	ENSP00000502378.1:n.*1131A>C
ENST00000676086.1:n.5256A>C
ENST00000676121.1:n.5299A>C
ENST00000676162.1:n.200A>C
ENST00000676237.1:c.3414A>C	ENSP00000501828.1:p.Val1138=
ENST00000676416.1:c.3171A>C	ENSP00000501660.1:p.Val1057=
ENST00000676424.1:n.5309A>C
ENST00000676429.1:n.7940A>C
ENST00000374647.9:c.3471A>C	ENSP00000363779.5:p.Val1157=
ENST00000467959.1:n.351A>C
ENST00000495759.5:c.611A>C
ENST00000537196.1:c.2424A>C	ENSP00000439367.1:p.Val808=
NM_003640.3:c.3471A>C , LRG_251t1:c.3471A>C	NP_003631.2:p.Val1157=
XM_005252285.2:c.3129A>C	XP_005252342.1:p.Val1043=
XM_011519136.1:c.3513A>C	XP_011517438.1:p.Val1171=
XM_011519137.1:c.3171A>C	XP_011517439.1:p.Val1057=
NM_001318360.1:c.3129A>C	NP_001305289.1:p.Val1043=
NM_001330749.1:c.2424A>C	NP_001317678.1:p.Val808=
NM_003640.4:c.3471A>C	NP_003631.2:p.Val1157=
XM_011519136.2:c.3513A>C	XP_011517438.1:p.Val1171=
XR_929859.3:n.3860A>C
NM_003640.5:c.3471A>C MANE Select	NP_003631.2:p.Val1157=
NM_001318360.2:c.3129A>C	NP_001305289.1:p.Val1043=
NM_001330749.2:c.2424A>C	NP_001317678.1:p.Val808=